A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

被引：0
|
作者：
Malicdan, M. [1 ]
Vilboux, T. [2 ]
Ben-Zeev, B. [3 ]
Guo, J. [1 ]
Eliyahu, A. [3 ]
Pode-Shakked, B. [3 ]
Dori, A. [4 ]
Kakani, S. [1 ]
Chandrasekharappa, S. [1 ]
Ferreira, C. [1 ]
Shelestovich, N. [5 ]
Marek-Yagel, D. [3 ]
Pri-Chen, H. [1 ]
Blat, I. [4 ]
Niederhuber, J. [2 ]
Toro, C. [1 ]
Deeken, J. [2 ]
Yardeni, T. [6 ]
Wallace, D. [6 ]
Gahl, W. [1 ]
Anikster, Y. [3 ]
机构：
[1] NIH, Bethesda, MD 20892 USA
[2] Inova Translat Med Inst, Falls Church, VA USA
[3] Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Tel Hashomer, Israel
[4] Sheba Med Ctr, Tel Hashomer, Israel
[5] Tel Aviv Univ, Tel Aviv, Israel
[6] Childrens Hosp, Philadelphia Res Inst, Philadelphia, PA USA
来源：
NEUROMUSCULAR DISORDERS | 2017年 / 27卷
关键词：
D O I：
10.1016/j.nmd.2017.06.302
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
NG.O.12
引用
收藏
页码：S176 / S176
页数：1
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